基于快速和常规全外显子组分析技术对遗传性疾病的诊断程序比较

发布时间：2018-06-24 23:49

  本文选题：全外显子测序 + 诊断不明病例　； 参考：《中国循证儿科杂志》2016年02期

【摘要】：目的探索可被临床医生直接应用的全外显子测序(WES)数据分析平台及方法。方法选择复旦大学附属儿科医院(我院)临床诊断不明疾病的核心家系3例(例1～3)和仅先证者2例(例4和5)行WES分析,采用Wu Xi NextCODE临床测序数据分析系统(简称NextCODE平台)进行快速数据分析,并与我院分子诊断中心已建立的高通量数据分析流程(简称常规数据分析流程)进行参与人员及耗时的比较。结果例1～3基于表型相关候选基因联合遗传模式的分析方法,分别检测到FGFR2基因杂合突变、GBE1基因复合杂合突变及TBX1基因杂合突变;例4和5通过表型相关候选基因分析,分别检测到IL10RA基因纯合突变和复合杂合突变。NextCODE平台自动完成3/7个步骤,从输入表型至生成报告,WES数据分析用时30 min以内。常规数据分析流程自动完成1/7个步骤,6个人工完成步骤需要多个专业人员进行数据的筛选及解读,从输入表型至生成报告,熟练的专业人员用时2～8 h。结论 5例临床诊断不明病例通过WES明确了诊断;NextCODE是直接为临床医生所用、简单快速的WES数据分析平台,有助于协助临床医生直接利用高通量测序数据,准确锁定致病突变,提高诊断效率。
[Abstract]:Objective to explore the data analysis platform and method of total exon sequencing (WES) which can be used directly by clinicians. Methods WES analysis was performed in 3 cases of nuclear family (case 1, 3) and 2 cases of proband only (cases 4 and 5) in pediatrics hospital affiliated to Fudan University (our hospital). Using Wu Xi NextCODE clinical sequencing data analysis system (NextCODE platform) for rapid data analysis, The participants and time consuming were compared with the high throughput data analysis process established by our molecular diagnosis center (referred to as routine data analysis process). Results based on the analysis of phenotypic candidate genes combined with genetic pattern, FGFR2 gene heterozygosity and TBX1 gene heterozygosity were detected in case 1 and 5, respectively. Homozygous mutation of IL10RA gene and compound heterozygosity mutation. NextCODE platform completed 3 / 7 steps automatically, from input phenotype to generating report data analysis within 30 min. The routine data analysis process automatically completes 1 / 7 steps, and 6 manual steps require multiple professionals to screen and interpret the data, from input phenotype to report generation, and the skilled professional takes 2 minutes and 8 hours. Conclusion the diagnosis of NextCODE is a simple and rapid data analysis platform for clinicians by WES. It is helpful for clinicians to use high-throughput sequencing data directly and to lock down the pathogenic mutation accurately. Improve diagnostic efficiency.
【作者单位】： 复旦大学附属儿科医院分子诊断中心;明码(上海)生物科技有限公司;
【基金】：上海科学技术委员会/医学领域重点项目子课题:14411950402 上海市卫生和计划生育委员会课题:沪卫计科教[2013]018号
【分类号】：R725;R440
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本文编号：2063546